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rs760079636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs760079636(A;A)
Make rs760079636(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position99142664
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs760079636
dbSNP (classic)rs760079636
ClinGenrs760079636
ebirs760079636
HLIrs760079636
Exacrs760079636
Gnomadrs760079636
Varsomers760079636
LitVarrs760079636
Maprs760079636
PheGenIrs760079636
Biobankrs760079636
1000 genomesrs760079636
hgdprs760079636
ensemblrs760079636
geneviewrs760079636
scholarrs760079636
googlers760079636
pharmgkbrs760079636
gwascentralrs760079636
openSNPrs760079636
23andMers760079636
SNPshotrs760079636
SNPdbers760079636
MSV3drs760079636
GWAS Ctlgrs760079636
Max Magnitude0
ClinVar
Risk rs760079636(A;A)
Alt rs760079636(A;A)
Reference Rs760079636(G;G)
Significance Probable-Pathogenic
Disease not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene TGFBR1
CLNDBN not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000009.11:g.101904946G>A
CLNSRC
CLNACC RCV000199247.2, RCV000208245.1, RCV000246328.1,